Mutagenetix > Incidental Mutation

Incidental Mutation 'R9242:Ctsd'

701051

Institutional Source

Beutler Lab

Gene Symbol

Ctsd

Ensembl Gene

ENSMUSG00000007891

Gene Name

cathepsin D

Synonyms

CatD, CD

MMRRC Submission

068988-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9242 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141929647-141941564 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 141937280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121203 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066401] [ENSMUST00000151120] [ENSMUST00000151120] [ENSMUST00000151120]

AlphaFold

P18242

Predicted Effect

probably benign
Transcript: ENSMUST00000066401

SMART Domains

Protein: ENSMUSP00000063904
Gene: ENSMUSG00000007891

Domain	Start	End	E-Value	Type
Pfam:A1_Propeptide	21	49	1.7e-11	PFAM
Pfam:Asp	78	274	1.6e-75	PFAM
Pfam:TAXi_N	79	246	2.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133843

SMART Domains

Protein: ENSMUSP00000117247
Gene: ENSMUSG00000110040

Domain	Start	End	E-Value	Type
Pfam:Asp	1	249	4.5e-74	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000151120

SMART Domains

Protein: ENSMUSP00000121203
Gene: ENSMUSG00000007891

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:A1_Propeptide	21	48	6.9e-11	PFAM
Pfam:Asp	78	407	4.7e-123	PFAM
Pfam:TAXi_N	79	247	2.1e-10	PFAM
Pfam:TAXi_C	326	406	6.4e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000151120

SMART Domains

Protein: ENSMUSP00000121203
Gene: ENSMUSG00000007891

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:A1_Propeptide	21	48	6.9e-11	PFAM
Pfam:Asp	78	407	4.7e-123	PFAM
Pfam:TAXi_N	79	247	2.1e-10	PFAM
Pfam:TAXi_C	326	406	6.4e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000151120

SMART Domains

Protein: ENSMUSP00000121203
Gene: ENSMUSG00000007891

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:A1_Propeptide	21	48	6.9e-11	PFAM
Pfam:Asp	78	407	4.7e-123	PFAM
Pfam:TAXi_N	79	247	2.1e-10	PFAM
Pfam:TAXi_C	326	406	6.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209263

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (49/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a null mutation die in a state of anorexia at ~P26, displaying severe atrophy of the intestinal mucosa, and massive destruction of the thymus and spleen with loss of T and B cells; near the terminal stage, affected mice have seizures,display retinal atrophy, and become blind. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	C	A	5: 8,949,677 (GRCm39)	T79K	probably damaging	Het
Ackr3	G	T	1: 90,142,558 (GRCm39)	G339V	probably damaging	Het
Agpat4	G	T	17: 12,429,186 (GRCm39)	R146L	probably damaging	Het
Ampd1	C	T	3: 102,998,936 (GRCm39)	R364C	probably damaging	Het
Atrnl1	A	G	19: 57,645,660 (GRCm39)	T507A	probably benign	Het
Cand2	C	G	6: 115,768,923 (GRCm39)	R578G	probably benign	Het
Capg	C	T	6: 72,532,869 (GRCm39)	P111L	probably damaging	Het
Carm1	C	T	9: 21,494,350 (GRCm39)	T289I	probably damaging	Het
Ccr6	A	G	17: 8,474,965 (GRCm39)	I57V	probably benign	Het
Cdk5rap2	T	C	4: 70,255,583 (GRCm39)	I434V	possibly damaging	Het
Chrdl2	C	T	7: 99,655,743 (GRCm39)		probably benign	Het
Cntnap5a	A	G	1: 116,220,109 (GRCm39)	T640A	probably benign	Het
D17H6S53E	G	T	17: 35,346,536 (GRCm39)	R149L	possibly damaging	Het
Dync1i1	A	G	6: 5,769,706 (GRCm39)	T77A	probably benign	Het
Emc2	T	C	15: 43,358,639 (GRCm39)	M100T	probably benign	Het
Esrra	A	G	19: 6,889,863 (GRCm39)	V290A	probably benign	Het
Fbl	T	C	7: 27,876,620 (GRCm39)	I207T	probably benign	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Gcc1	T	A	6: 28,420,375 (GRCm39)	N314I	possibly damaging	Het
Gzmm	A	T	10: 79,530,354 (GRCm39)	D175V	probably damaging	Het
Heatr1	G	A	13: 12,448,806 (GRCm39)	M1840I	probably benign	Het
Helz	T	C	11: 107,523,153 (GRCm39)	L779P	probably damaging	Het
Impg1	T	A	9: 80,289,064 (GRCm39)	N331I	probably damaging	Het
Inmt	C	T	6: 55,150,270 (GRCm39)		probably null	Het
Inpp5a	C	T	7: 139,061,634 (GRCm39)	T102M	probably damaging	Het
Lamc3	A	G	2: 31,788,323 (GRCm39)	Y161C	probably benign	Het
Lpin2	A	G	17: 71,553,966 (GRCm39)	*932W	probably null	Het
Lrp3	C	T	7: 34,901,934 (GRCm39)	R649H	probably benign	Het
Madd	G	A	2: 90,973,949 (GRCm39)	T1464I	probably damaging	Het
Nceh1	C	A	3: 27,293,777 (GRCm39)	Y178*	probably null	Het
Or5ae2	A	T	7: 84,506,086 (GRCm39)	K172*	probably null	Het
Or5b96	T	A	19: 12,867,989 (GRCm39)		probably benign	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Ptchd4	A	T	17: 42,627,604 (GRCm39)	R22*	probably null	Het
Ptpru	C	T	4: 131,530,341 (GRCm39)	G560S	probably damaging	Het
Ralgapb	G	T	2: 158,277,386 (GRCm39)	R250L	probably benign	Het
Rcor1	T	A	12: 111,076,228 (GRCm39)	Y395*	probably null	Het
Slc35f6	G	T	5: 30,805,410 (GRCm39)		probably benign	Het
Slc40a1	A	G	1: 45,950,129 (GRCm39)	V441A	probably benign	Het
Slc6a13	T	A	6: 121,295,228 (GRCm39)	F77Y	probably damaging	Het
Slc6a15	T	A	10: 103,229,406 (GRCm39)	C148*	probably null	Het
Sox10	T	C	15: 79,040,640 (GRCm39)	Y300C	probably damaging	Het
Tomm70a	T	A	16: 56,958,383 (GRCm39)		probably benign	Het
Tor4a	A	G	2: 25,085,537 (GRCm39)	V122A	probably benign	Het
Tpi1	T	C	6: 124,791,138 (GRCm39)	Q33R	probably benign	Het
Unk	T	C	11: 115,940,184 (GRCm39)	V179A	probably benign	Het
Ush2a	G	T	1: 188,365,787 (GRCm39)	G2214C	probably damaging	Het
Vmn1r159	T	A	7: 22,542,912 (GRCm39)	Y40F	probably benign	Het
Wbp2nl	T	C	15: 82,192,748 (GRCm39)	V144A	probably benign	Het
Wdpcp	A	G	11: 21,835,040 (GRCm39)	E681G	probably benign	Het

Other mutations in Ctsd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00841:Ctsd	APN	7	141,936,418 (GRCm39)	missense	probably damaging	1.00
IGL01963:Ctsd	APN	7	141,930,336 (GRCm39)	critical splice donor site	probably null
IGL02021:Ctsd	APN	7	141,939,213 (GRCm39)	missense	probably damaging	0.99
twiggy	UTSW	7	141,930,881 (GRCm39)	missense	probably damaging	1.00
R5161:Ctsd	UTSW	7	141,930,881 (GRCm39)	missense	probably damaging	1.00
R5533:Ctsd	UTSW	7	141,931,070 (GRCm39)	missense	probably benign	0.00
R5762:Ctsd	UTSW	7	141,937,266 (GRCm39)	missense	probably damaging	1.00
R5933:Ctsd	UTSW	7	141,930,316 (GRCm39)	missense	probably benign	0.00
R6031:Ctsd	UTSW	7	141,930,451 (GRCm39)	missense	probably damaging	1.00
R6365:Ctsd	UTSW	7	141,939,314 (GRCm39)	missense	probably benign	0.37
R6721:Ctsd	UTSW	7	141,930,590 (GRCm39)	missense	possibly damaging	0.77
R7426:Ctsd	UTSW	7	141,937,278 (GRCm39)	missense	probably damaging	0.96
R7499:Ctsd	UTSW	7	141,937,149 (GRCm39)	splice site	probably null
R7829:Ctsd	UTSW	7	141,930,879 (GRCm39)	missense	probably damaging	1.00
R8322:Ctsd	UTSW	7	141,939,197 (GRCm39)	missense	probably damaging	0.99
R9423:Ctsd	UTSW	7	141,939,212 (GRCm39)	missense	probably damaging	1.00
R9601:Ctsd	UTSW	7	141,936,373 (GRCm39)	missense	probably damaging	1.00
X0025:Ctsd	UTSW	7	141,930,581 (GRCm39)	missense	probably damaging	1.00
Z1088:Ctsd	UTSW	7	141,930,334 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGCCAGGCATCTCAAAG -3'
(R):5'- CTGGAGTTCAGTACTGGGTCTC -3'

Sequencing Primer
(F):5'- CATCTCAAAGGGTCCCAGGAG -3'
(R):5'- GCAATCTATTCTTGGGAGTCCC -3'

Posted On

2022-03-25